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81 Possible Causes for Agenesis of Corpus Callosum, Patent Ductus Arteriosus, Proximally Placed Thumb

  • Smith Lemli Opitz Syndrome

    He had microcephaly, ambiguous genitalia, cleft palate, syndactyly of toes, patent ductus arteriosus and hypertrophic pyloric stenosis.[ncbi.nlm.nih.gov] […] of corpus callosum, cerebellar vermis dysgenesis, cataracts, cleft palate, many different forms of congenital heart defect, pyloric stenosis and/or Hirschsprung dysganglionosis[ncbi.nlm.nih.gov] placed thumbs.[orpha.net]

  • Mowat-Wilson Syndrome

    Pulmonary artery slings, atrial or ventricular septal defects, coarctation of the aorta, patent ductus arteriosus, and tetralogy of Fallot may be some of the manifestations[symptoma.com] […] that did not require surgery, ulnar deviation of the hands, proximally placed thumbs, delayed bone age, significant scoliosis, and camptodactyly [ Mowat et al 2003, Adam[ncbi.nlm.nih.gov] Other associated congenital anomalies include cerebral (agenesis of the corpus callosum), cardiac (patent ductus arteriosus,ventricular septal defect, valvular pulmonary stenosis[orpha.net]

  • Gorlin-Chaudhry-Moss Syndrome

    A patent ductus arteriosus may close by itself if the child is born prematurely.[symptoma.com] CT scan identified agenesis of the corpus callosum. At age 21 she had moderate mental retardation and spoke in short phrases with unclear speech.[nature.com] Otopalatodigital syndrome type I (OPD1): Digital anomalies including short, often proximally placed thumbs with hypoplasia of the distal phalanges.[vivavoceoralmedicineradiology.com]

  • Syndromic Microphthalmia Type 10

    Ductus Arteriosus l Gastroesophageal Reflux and Gastroesophageal Reflux Diseases in the Neonate.[books.google.de] […] of the optic nerve, agenesis of the corpus callosum, developmental delay, joint laxity, hypotonia, and seizures.[malacards.org] placed thumbs, short distal phalanges - - - 1B (sister of 1A) 16q11.1q12.1 550 band karyotype ND Proximally placed thumbs, short distal phalanges - - 2 16q11.2q21 CGH/FISH[bmcmedgenet.biomedcentral.com]

  • Partial Monosomy 18q

    ductus arteriosus (PDA).[rarediseases.org] Milder forms include absent olfactory tracts and bulbs, agenesis of corpus callosum, hypopituitarism and minor facial features (hypo- or hypertelorism, flat nasal bridge)[ojrd.biomedcentral.com] placed thumbs 33 Chorea 3 Nystagmus 30 Gap between 1st & 2nd toe 3 Palate abnormality 30 Low posterior hairline 3 Cleft 12 Scoliosis 3 High arched 15 Strawberry birthmark[labmed.hallym.ac.kr]

  • Tracheoesophageal Fistula

    Esophageal atresia is often associated with other congenital anomalies, most commonly cardiac abnormalities such as ventricular septal defect, patent ductus arteriosus or[ncbi.nlm.nih.gov] We report the first case of CPAM type I, co-existing with tracheo-esophageal fistula and corpus callosum agenesis.[ncbi.nlm.nih.gov] Limb anomalies (hexadactyly, humeral hypoplasia, radial aplasia, and proximally placed thumb).[lecturio.com]

  • Congenital Iris Coloboma

    Ductus Arteriosus l Gastroesophageal Reflux and Gastroesophageal Reflux Diseases in the Neonate.[books.google.ro] MAPGROUP 3 6011000124106 MAPTARGET 6011000124106 MAPADVICE IF AGENESIS OF CORPUS CALLOSUM, INTELLECTUAL DISABILITY, COLOBOMA, MICROGNATHIA SYNDROME CHOOSE M26.09 MAP OF SOURCE[bioportal.bioontology.org] , short broad thumbs, proximally placed thumbs, adducted thumbs (positional), 1 st –2 nd finger syndactyly, distal phalanges of fingers hypoplasia, camptodactyly, delayed[ojrd.biomedcentral.com]

  • Vocal Cord Paralysis

    To determine the prevalence of left vocal cord paralysis (LVCP) post patent ductus arteriosus (PDA) ligation at a Tertiary Care Centre. 2.[ncbi.nlm.nih.gov] […] of the corpus callosum, congenital hydrocephalus and, in one infant, intraventricular haemorrhage. 5 Subdural haemorrhage as a cause of neonatal unilateral vocal cord palsy[nature.com] After this fluid has passed proximally, the foreskin is reduced by placing both thumbs on the glans and using the remaining fingers to pull the foreskin back over the glans[emedicine.medscape.com]

  • Malpuech Syndrome

    This two-month-old male infant was also affected by cardiac anomalies including patent ductus arteriosus (PDA) and ventricular septal defect .[wiki30.com] The brain was abnormal, with micropolygyria, agenesis of corpus callosum, median cleft of the cerebellum and brain stem, and occipital encephalocele.[slideheaven.com] Thumb anomalies (proximally placed, duplicated, or hypoplastic thumbs) are seen in about 25% of individuals.[ncbi.nlm.nih.gov]

  • Genee-Wiedemann Syndrome

    Other features include supernumerary vertebrae and other vertebral segmentation and rib defects, heart defects (patent ductus arteriosus, ventricular septal defect and Ostium[en.wikipedia.org] ., agenesis of the corpus callosum and proteinuria), the disorders are now considered to represent the same entity ( Kantarci et al., 2007 ).[mendelian.co] In addition, the thumb may be small and proximally placed.[link.springer.com]

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